Jens U. Häggström

This study assesses the reproducibility of pathogenicity classification using the animal variant classification guidelines across three species, finding 65% reproducibility for pathogenicity and 83% clinically relevant agreement.

This paper develops and validates variant classification guidelines for animals, improving the accuracy of pathogenicity assessment in cats and eight other species.

The paper presents a new long-read dog genome assembly that reduces gaps and identifies thousands of previously hidden exons and functional elements.